Use of HFE mutation analysis for hereditary hemochromatosis

The need for physician education in the translation of basic science to clinical practice

Manish Kohli, Steven A. Schichman, Louis Fink, Clive S. Zent

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Background. Hereditary hemochromatosis (HH) is a common hereditary disorder of iron metabolism causing iron overload, organ failure, and malignancy. Preclinical diagnosis using HFE gene analysis followed by prophylactic phlebotomy can completely prevent the disease. Methods. We conducted a mail survey of all registered primary care physicians, gastroenterologists, and hematologists in Arkansas (n = 860) to determine utilization of HFE mutation analysis in clinical medicine a year after the new molecular test first became available. Results. Of 346 responding physicians (40%), 71 (21%) were aware of the test, 36 (10%) knew that the test was available in Arkansas, and 10 (3%) had used the test. One physician had used the test to screen first-degree relatives of a homozygous HH proband. Conclusions. Because of poor utilization of the test, the discovery of the role of HFE mutations in HH has had minimal impact on clinical care in Arkansas.

Original languageEnglish (US)
Pages (from-to)469-471
Number of pages3
JournalSouthern Medical Journal
Volume93
Issue number5
StatePublished - May 2000
Externally publishedYes

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Hemochromatosis
Physicians
Education
Mutation
Iron Metabolism Disorders
Iron Overload
Phlebotomy
Clinical Medicine
Postal Service
Primary Care Physicians
Genes
Neoplasms

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Use of HFE mutation analysis for hereditary hemochromatosis : The need for physician education in the translation of basic science to clinical practice. / Kohli, Manish; Schichman, Steven A.; Fink, Louis; Zent, Clive S.

In: Southern Medical Journal, Vol. 93, No. 5, 05.2000, p. 469-471.

Research output: Contribution to journalArticle

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